Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03019:Inka2'

407983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inka2

Ensembl Gene

ENSMUSG00000048458

Gene Name

inka box actin regulator 2

Synonyms

Fam212b, 6530418L21Rik, Inka2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03019

Quality Score

Status

Chromosome

Chromosomal Location

105611915-105628158 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to T at 105623687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000095874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066610] [ENSMUST00000098273]

AlphaFold

Q80VY2

Predicted Effect

probably benign
Transcript: ENSMUST00000066610
AA Change: M20I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000069212
Gene: ENSMUSG00000048458
AA Change: M20I

Domain	Start	End	E-Value	Type
low complexity region	93	102	N/A	INTRINSIC
Pfam:FAM212	118	178	1.9e-32	PFAM
low complexity region	246	262	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098273
AA Change: M1I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095874
Gene: ENSMUSG00000048458
AA Change: M1I

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
Pfam:FAM212	98	160	9.6e-30	PFAM
low complexity region	227	243	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	A	9: 121,738,248 (GRCm39)	Y208N	probably benign	Het
Agap2	T	C	10: 126,927,431 (GRCm39)		probably benign	Het
Arhgap21	A	T	2: 20,865,874 (GRCm39)	I914N	probably damaging	Het
Brsk1	T	C	7: 4,713,496 (GRCm39)		probably benign	Het
Cachd1	A	T	4: 100,809,282 (GRCm39)	T256S	probably damaging	Het
Ccdc171	G	T	4: 83,713,545 (GRCm39)	G1195W	probably damaging	Het
Cept1	A	G	3: 106,411,957 (GRCm39)	M339T	probably damaging	Het
Cir1	T	C	2: 73,116,692 (GRCm39)	K223E	unknown	Het
Cited2	A	T	10: 17,599,910 (GRCm39)	M73L	probably benign	Het
Drg2	T	C	11: 60,347,421 (GRCm39)	Y37H	probably damaging	Het
Drosha	T	C	15: 12,846,185 (GRCm39)	L440P	probably damaging	Het
Dsc1	G	A	18: 20,221,421 (GRCm39)	P685S	probably benign	Het
Epha1	T	A	6: 42,339,686 (GRCm39)	D639V	probably damaging	Het
Izumo4	A	G	10: 80,539,680 (GRCm39)		probably benign	Het
Kcnmb2	A	T	3: 32,252,299 (GRCm39)	R167W	probably damaging	Het
Lce1k	A	C	3: 92,714,086 (GRCm39)	C33G	unknown	Het
Map7	C	T	10: 20,143,101 (GRCm39)	P417S	unknown	Het
Myo18b	A	G	5: 112,840,263 (GRCm39)	V2510A	probably benign	Het
Rubcn	A	T	16: 32,647,077 (GRCm39)	V787D	probably damaging	Het
Spen	A	T	4: 141,206,227 (GRCm39)	L800Q	unknown	Het
Zfp276	C	A	8: 123,994,673 (GRCm39)	T580N	probably damaging	Het
Zfp354c	G	T	11: 50,708,021 (GRCm39)	P60T	probably damaging	Het

Other mutations in Inka2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1623:Inka2	UTSW	3	105,624,136 (GRCm39)	missense	probably damaging	1.00
R5554:Inka2	UTSW	3	105,623,930 (GRCm39)	missense	possibly damaging	0.86
R5651:Inka2	UTSW	3	105,623,748 (GRCm39)	missense	probably damaging	1.00
R7904:Inka2	UTSW	3	105,623,730 (GRCm39)	missense	probably damaging	0.98
R7946:Inka2	UTSW	3	105,623,761 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02